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GGCGGCAGCTACAGCAGGGGGCCAG[A/G]GTGGCGCCGCTAGGAAGGAGAAGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610509 MIM: 601197 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RIC3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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RIC3 - RIC3 acetylcholine receptor chaperone | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135109.2 | 554 | Intron | NP_001128581.1 | |||
NM_001206671.2 | 554 | Intron | NP_001193600.1 | |||
NM_001206672.2 | 554 | Intron | NP_001193601.1 | |||
NM_024557.4 | 554 | Intron | NP_078833.3 | |||
XM_006718317.3 | 554 | Intron | XP_006718380.1 | |||
XM_006718318.3 | 554 | Intron | XP_006718381.1 | |||
XM_006718321.3 | 554 | Intron | XP_006718384.1 | |||
XM_017018287.1 | 554 | Intron | XP_016873776.1 | |||
XM_017018288.1 | 554 | Intron | XP_016873777.1 | |||
XM_017018289.1 | 554 | Intron | XP_016873778.1 | |||
XM_017018290.1 | 554 | Intron | XP_016873779.1 |
TUB - tubby bipartite transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003320.4 | 554 | Missense Mutation | AGT,GGT | S,G 175 | NP_003311.2 | |
NM_177972.2 | 554 | Missense Mutation | AGT,GGT | S,G 120 | NP_813977.1 | |
XM_005253109.3 | 554 | Missense Mutation | AGT,GGT | S,G 162 | XP_005253166.1 | |
XM_011520344.2 | 554 | Missense Mutation | AGT,GGT | S,G 132 | XP_011518646.1 |